Who is Audrey DBA?
Who is Audrey DBA?
Audrey was 2 months old when doctors diagnosed her with Diamond Blackfan Anemia, a rare blood disease that means Audrey doesn’t make enough red blood cells. As a result, she’s on steroids and sometimes has to get blood transfusions. She said Taylor Swift inspired her to start singing.
How long can you live with Diamond-Blackfan anemia?
The DBA Registry of North America, a database with information about people who have this condition, shows 25% of people with DBA die by age 50 from related medical conditions. Starting in their 40s, people with this condition have an increased risk of developing cancer that could be life-threatening.
Is there a cure for Diamond-Blackfan anemia?
For some children, Diamond-Blackfan anemia can be cured by having an infusion of blood-forming stem cells from a healthy donor. This is called a stem cell transplant or bone marrow transplant or hematopoietic (him-at-oh-poy-EH-tik) cell transplant. It helps your child’s bone marrow make normal blood cells.
How old is the little girl Audrey?
Audrey is the 8 year old girl who has light skin.
What causes Diamond-Blackfan anemia?
Causes. Diamond Blackfan anemia is caused by changes (mutations) in ribosomal protein genes in about 80-85% of those affected. In the remaining 10-15% of patients, no abnormal genes have yet been identified. A mutation in the RPS19 gene is the cause of DBA in about 25% of patients.
Is DBA inherited?
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In approximately 45 percent of cases, an affected person inherits the mutation from one affected parent .
